The wide-ranging symptoms 2q11.2 Deletion Syndrome (22q11.2DS) presents can include fatigue and muscle hypotonia, significantly impacting an individual's quality of life and development.
Fatigue
Fatigue is a commonly reported and often debilitating symptom in individuals with 22q11.2DS, particularly in adults. Studies have shown that a high percentage of adults with 22q11.2DS experience severe fatigue, often correlating with increased depressive symptoms and a reduced quality of life. The exact mechanisms underlying fatigue in 22q11.2DS are not fully understood, but it is likely multifactorial, stemming from the syndrome's broad systemic effects. These can include:
- Cardiac issues: Congenital heart defects are very common in 22q11.2DS, and even when repaired, they can lead to reduced exercise tolerance and chronic strain on the body, contributing to fatigue.
- Immunodeficiency and recurrent infections: A compromised immune system due to thymic dysfunction can lead to frequent or severe infections, which are inherently fatiguing.
- Endocrine abnormalities: Hypoparathyroidism, leading to low calcium levels (hypocalcemia), is prevalent and can cause symptoms like tiredness. Thyroid problems and growth hormone deficiency can also contribute.
- Sleep disturbances: Obstructive sleep apnea, common due to anatomical differences and hypotonia, can severely disrupt sleep quality, leading to daytime fatigue.
- Psychiatric and cognitive issues: The high prevalence of anxiety, depression, and other mental health conditions, as well as cognitive difficulties, can manifest as or exacerbate fatigue.
Management of fatigue in 22q11.2DS requires a comprehensive approach, addressing underlying medical conditions, optimizing sleep, managing mental health, and promoting physical activity within individual limitations.
Muscle Hypotonia
Muscle hypotonia, or low muscle tone, is a frequent finding in individuals with 22q11.2DS, particularly in early childhood. This can present as "floppiness" and contributes to developmental delays, especially in motor skills like sitting, walking, and talking. Hypotonia in 22q11.2DS can be attributed to:
- Neuromotor deficits: The deletion on chromosome 22 can affect brain development and function, leading to impaired coordination and muscle control.
- Structural abnormalities: Issues like velopharyngeal dysfunction, common in 22q11.2DS, are linked to hypotonia of the velopharyngeal muscles, impacting speech and swallowing.
- Skeletal issues: While not a direct cause of hypotonia, associated skeletal problems like scoliosis can be exacerbated by or contribute to motor challenges.
Management of hypotonia primarily involves physical therapy and occupational therapy. These interventions aim to strengthen muscles, improve coordination, enhance balance, and develop fine and gross motor skills. Early intervention is crucial to support developmental milestones and improve long-term functional independence.